The Experts below are selected from a list of 2187 Experts worldwide ranked by ideXlab platform
Sezin Aydemir - One of the best experts on this subject based on the ideXlab platform.
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Two patients with Chronic Mucocutaneous Candidiasis caused by TRAF3IP2 deficiency.
The Journal of allergy and clinical immunology, 2020Co-Authors: Samantha Shafer, Yikun Yao, William A Comrie, Sarah A. Cook, Yu Zhang, Gozde Yesil, Elif Karakoc-aydiner, Safa Baris, Haluk Çokuğraş, Sezin AydemirAbstract:Abstract: Background TRAF3IP2 (Act1) is an adapter protein that interacts with IL-17R via its SEF/IL-17R (SEFIR) domain and coordinates two separate pro-inflammatory pathways following IL-17 cytokine stimulation. Objective To elucidate the immunological consequences of TRAF3IP2 homozygous mutations to improve treatments for immunodeficiency patients with Chronic Mucocutaneous Candidiasis. Methods We describe two patients presenting with Chronic Mucocutaneous Candidiasis that harbor biallelic nonsense mutations in TRAF3IP2. The cellular and molecular features of this genetic defect were assessed using in vitro cytokine assays and protein analysis. Results We show the homozygous mutation causes complete loss of protein expression. We also show that the absence of TRAF3IP2 was associated with a defective response to combined IL-2/IL-25 (IL-17E) stimulation. Conclusion Failure to initiate normal signaling downstream of IL-17R engagement likely contributes to the patients' recurrent fungal infections. These findings add to our molecular understanding of genetic defects affecting this critical pathway of anti-fungal immunity.
Pengcheng Lei - One of the best experts on this subject based on the ideXlab platform.
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Histopathologic and scanning electron microscope examination of the nail and hair in Chronic Mucocutaneous Candidiasis.
Journal of the American Academy of Dermatology, 2003Co-Authors: Jie Liu, Pengcheng LeiAbstract:Abstract The case of a 4-year-old boy with Chronic Mucocutaneous Candidiasis is reported. Nail sections stained with periodic acid-Schiff and Grocott-Gomori methenamine-silver showed pseudohyphae running haphazardly within the nail. Scanning electron microscopy showed hyphae penetrating into the nail plate and the hair shaft.
Charles H. Kirkpatrick - One of the best experts on this subject based on the ideXlab platform.
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Chronic Mucocutaneous Candidiasis.
The Pediatric infectious disease journal, 2001Co-Authors: Charles H. KirkpatrickAbstract:Chronic Mucocutaneous Candidiasis should be viewed as a spectrum of disorders in which the patients have persistent and/or recurrent Candidiasis of the skin, nails and mucous membranes. Some of the conditions have genetic predispositions. A common immunologic abnormality is failure of the patient's T lymphocytes to produce cytokines that are essential for expression of cell-mediated immunity to Candida. Antifungal drugs are effective in clearing the infections, and treatments that restore cellular immunity have produced long term remissions.
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Chronic Mucocutaneous Candidiasis
Journal of The American Academy of Dermatology, 1994Co-Authors: Charles H. KirkpatrickAbstract:Chronic Mucocutaneous Candidiasis is a complex disorder in which patients have Chronic and recurrent Candida albicans infections of the skin, nails, and mucous membranes. There are several subgroups of patients with Chronic Mucocutaneous Candidiasis, and these can be identified by associated disorders such as autoimmune diseases, endocrinopathies, thymoma, and interstitial keratitis, as well as the distribution and severity of the Candida infections. Several other disorders may coexist in patients with Chronic Mucocutaneous Candidiasis. These include other infectious diseases, endocrinopathies, dental enamel dysplasia, vitiligo, and alopecia totalis. Successful treatment programs should include antifungal drugs and manipulations that correct the immunologic abnormalities that predispose the patient to Candida infections.
Eystein S. Husebye - One of the best experts on this subject based on the ideXlab platform.
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Chronic Mucocutaneous Candidiasis and primary hypothyroidism in two families
European Journal of Pediatrics, 2004Co-Authors: Anne Grethe Myhre, Asbjørg Stray-pedersen, Steinar Spangen, Eigill Eide, Dag Veimo, Per Morten Knappskog, Tore G. Abrahamsen, Eystein S. HusebyeAbstract:We describe the clinical and immunological features of two families with Chronic Mucocutaneous Candidiasis (CMC) and primary hypothyroidism. Family A includes three siblings with both Candidiasis and hypothyroidism and four individuals with hypothyroidism only. Family B includes four members with Candidiasis, of whom one (a male child) also had hypothyroidism. All individuals affected with CMC had suffered from oral Candidiasis and onychomycosis since infancy. Facial seborrhoic dermatitis, general folliculitis and scaling blepharitis were main manifestations. Hypothyroidism became evident during childhood. No thyroid antibodies were present in the affected siblings in family A, while the male in family B with hypothyroidism had antibodies against thyroid peroxidase at diagnosis. Immunological evaluation revealed intra-individual variations in serum immunoglobulin levels, lymphocyte subsets and proliferative responses, but there were no consistent abnormalities. Vaccine responses were normal. AIRE gene region microsatellite markers did not segregate with disease nor were autoantibodies typical for autoimmune polyendocrine syndrome type 1 detected in the families. Conclusion: the link between hypothyroidism and Chronic Mucocutaneous Candidiasis remains to be identified.
Samantha Shafer - One of the best experts on this subject based on the ideXlab platform.
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Two patients with Chronic Mucocutaneous Candidiasis caused by TRAF3IP2 deficiency.
The Journal of allergy and clinical immunology, 2020Co-Authors: Samantha Shafer, Yikun Yao, William A Comrie, Sarah A. Cook, Yu Zhang, Gozde Yesil, Elif Karakoc-aydiner, Safa Baris, Haluk Çokuğraş, Sezin AydemirAbstract:Abstract: Background TRAF3IP2 (Act1) is an adapter protein that interacts with IL-17R via its SEF/IL-17R (SEFIR) domain and coordinates two separate pro-inflammatory pathways following IL-17 cytokine stimulation. Objective To elucidate the immunological consequences of TRAF3IP2 homozygous mutations to improve treatments for immunodeficiency patients with Chronic Mucocutaneous Candidiasis. Methods We describe two patients presenting with Chronic Mucocutaneous Candidiasis that harbor biallelic nonsense mutations in TRAF3IP2. The cellular and molecular features of this genetic defect were assessed using in vitro cytokine assays and protein analysis. Results We show the homozygous mutation causes complete loss of protein expression. We also show that the absence of TRAF3IP2 was associated with a defective response to combined IL-2/IL-25 (IL-17E) stimulation. Conclusion Failure to initiate normal signaling downstream of IL-17R engagement likely contributes to the patients' recurrent fungal infections. These findings add to our molecular understanding of genetic defects affecting this critical pathway of anti-fungal immunity.